ClinVar for Gene (Select 317649) - ClinVar

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Links from Gene

Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062672	GRCh37/hg19 3p13(chr3:70583776-72793789)x1	EIF4E3, FOXP1 +4 more	Copy number loss	not specified	GPathogenic
Select item 2685085	GRCh37/hg19 3p13(chr3:71707206-72157556)x1	EIF4E3, GPR27 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2619983	NM_018971.3(GPR27):c.202G>A (p.Ala68Thr)	EIF4E3, GPR27 (A68T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2614316	NM_018971.3(GPR27):c.268C>G (p.Pro90Ala)	EIF4E3, GPR27 (P90A)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2606421	NM_018971.3(GPR27):c.718G>A (p.Ala240Thr)	EIF4E3, GPR27 (A240T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2603500	NM_001134651.2(EIF4E3):c.74C>T (p.Ala25Val)	EIF4E3 (A25V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2555393	NM_018971.3(GPR27):c.495C>G (p.Asp165Glu)	EIF4E3, GPR27 (D165E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2517350	NM_018971.3(GPR27):c.530C>A (p.Pro177His)	EIF4E3, GPR27 (P177H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2516048	NM_001134651.2(EIF4E3):c.17C>T (p.Ala6Val)	EIF4E3 (A6V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2512767	NM_001134651.2(EIF4E3):c.29C>G (p.Pro10Arg)	EIF4E3 (P10R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2471634	NM_018971.3(GPR27):c.691G>A (p.Gly231Ser)	EIF4E3, GPR27 (G231S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2383384	NM_018971.3(GPR27):c.136G>A (p.Glu46Lys)	EIF4E3, GPR27 (E46K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2348175	NM_001134651.2(EIF4E3):c.152C>G (p.Ser51Trp)	EIF4E3 (S51W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2327538	NM_001134651.2(EIF4E3):c.13C>T (p.Pro5Ser)	EIF4E3 (P5S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2260301	NM_018971.3(GPR27):c.656T>C (p.Leu219Pro)	EIF4E3, GPR27 (L219P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2248818	NM_018971.3(GPR27):c.18G>T (p.Glu6Asp)	EIF4E3, GPR27 (E6D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2225248	NM_001134651.2(EIF4E3):c.523G>A (p.Val175Ile)	EIF4E3 (V175I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1064533	Single allele	EIF4E3, EOGT +12 more	Deletion	See cases	GPathogenic
Select item 980499	GRCh37/hg19 3p13-12.3(chr3:70938608-74660846)x3	CNTN3, EBLN2 +10 more	Copy number gain	not provided	GUncertain significance
Select item 814454	GRCh37/hg19 3p13(chr3:71665558-72020026)x3	EIF4E3, PROK2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 562782	GRCh37/hg19 3p13(chr3:70618611-72399570)x1	PROK2, GPR27 +3 more	Copy number loss	not provided	GPathogenic
Select item 562781	GRCh37/hg19 3p14.1-12.3(chr3:66133719-75076440)x1	ARL6IP5, CNTN3 +22 more	Copy number loss	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	FBXL2, FBXO40 +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 441945	GRCh37/hg19 3p13-12.3(chr3:70433832-77012164)x1	CNTN3, EBLN2 +13 more	Copy number loss	See cases	GPathogenic
Select item 394175	GRCh37/hg19 3p13-12.3(chr3:70127345-74508912)x3	CNTN3, EBLN2 +10 more	Copy number gain	See cases	GUncertain significance
Select item 394130	GRCh37/hg19 3p13(chr3:71802608-71804290)x3	EIF4E3, GPR27	Copy number gain	See cases	GUncertain significance
Select item 154582	GRCh38/hg38 3p13-12.3(chr3:71317346-74324671)x1	CNTN3, EBLN2 +94 more	Copy number loss	See cases	GPathogenic
Select item 154117	GRCh38/hg38 3p13(chr3:71124507-71892267)x3	EIF4E3, FOXP1 +24 more	Copy number gain	See cases	GUncertain significance
Select item 151504	GRCh38/hg38 3p14.1-12.3(chr3:68328980-76764319)x3	ARL6IP5, CNTN3 +175 more	Copy number gain	See cases	GLikely pathogenic
Select item 150826	GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1	ROBO1, ROBO2 +481 more	Copy number loss	See cases	GPathogenic
Select item 148629	GRCh38/hg38 3p13(chr3:70943620-71861889)x1	EIF4E3, FOXP1 +29 more	Copy number loss	See cases	GPathogenic
Select item 144339	GRCh38/hg38 3p14.1-13(chr3:67391006-73414001)x1	ARL6IP5, EBLN2 +142 more	Copy number loss	See cases	GPathogenic
Select item 57773	GRCh38/hg38 3p13-12.3(chr3:70296167-74865078)x1	LOC129937044, LOC129937045 +110 more	Copy number loss	See cases	GPathogenic
Select item 57772	GRCh38/hg38 3p14.1-12.3(chr3:64761248-78410098)x1	ADAMTS9-AS2, ARL6IP5 +234 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 59